2184 lines
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- #235550 - HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
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- OMIM
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<p>
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<span class="h4">#235550</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/235550"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<span class="small">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11152&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1271/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/3331" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=235550[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79124" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0112254" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/235550" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 79124<br />
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<strong>DO:</strong> 0112254<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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235550
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/2/1087?start=-3&limit=10&highlight=1087">
|
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2q37.1
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Hepatic venoocclusive disease with immunodeficiency
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/235550"> 235550 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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SP110
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/604457"> 604457 </a>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/235550" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<li><a href="/graph/linear/235550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/235550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> Liver </strong>
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<span class="mim-font">
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- Venoocclusive disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/307221007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">307221007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/766955008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">766955008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948441</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025322</a>]</span><br />
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<strong> Immunology </strong>
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<span class="mim-font">
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- Immunodeficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234532001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234532001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4284394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4284394</a>, <a href="https://bioportal.bioontology.org/search?q=C0021051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002721</a>]</span><br /> - Hypogammaglobulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119250001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119250001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span><br /> - Multiple infections<br /> - Lymphoid germinal center defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847383</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002849" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002849</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002849" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002849</a>]</span><br /> - Mature plasma cell deficiency<br />
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<span class="h5 mim-font">
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<strong> HEENT </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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<span class="h5 mim-font">
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<strong> Cardiac </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Endocardial fibrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398716006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398716006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0553980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0553980</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006685</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hepatic venoocclusive disease with immunodeficiency (VODI) is caused by homozygous mutation in the SP110 gene (<a href="/entry/604457">604457</a>) on chromosome 2q37.</p>
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<strong>Description</strong>
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<p>Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells (summary by <a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p>In Australia, <a href="#1" class="mim-tip-reference" title="Mellis, C., Bale, P. M. <strong>Familial hepatic veno-occlusive disease with probable immune deficiency.</strong> J. Pediat. 88: 236-242, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1249685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1249685</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80988-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1249685">Mellis and Bale (1976)</a> described 5 infants in 3 families who died between ages 2 and 7 months with venoocclusive disease of the liver. In 2 of the families the parents were cousins. No exogenous explanation such as pyrrolizidine alkaloid, which is known to cause hepatic venoocclusive disease and at times affects multiple family members (<a href="#3" class="mim-tip-reference" title="Selzer, G., Parker, R. G. F. <strong>Senecio poisoning exhibiting as Chiari's syndrome: a report on twelve cases.</strong> Am. J. Path. 27: 885-907, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14868767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14868767</a>]" pmid="14868767">Selzer and Parker, 1951</a>), could be identified. All 5 infants had evidence suggesting immunodeficiency, such as hypogammaglobulinemia, multiple infections and lymphoid tissue deficient in germinal centers and mature plasma cells. Microcephaly, multiple small cerebral softenings, and left atrial endocardial fibrosis were also found at autopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14868767+1249685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> identified 6 children from 5 families of Lebanese ethnicity who presented between 3 and 7 months of age with either a combined T and B cell immunodeficiency and/or a personal or family history of hepatic venoocclusive disease. Clinical correlates of immunodeficiency included Pneumocystis jerovici infection, enteroviral infection, or mucocutaneous candidiasis, but there was no evidence of mycobacterial infection. Hepatic venoocclusive disease was verified by biopsy in at least 1 individual in each sibship and was indistinguishable clinically and pathologically from the sinusoidal obstruction syndrome described after hematopoietic stem cell transplantation. Absent lymph node germinal centers and absent tissue plasma cells were other features. The lack of recognized association of immunodeficiency with hepatic venoocclusive disease in other classes of immunodeficiency suggested that the hepatic venoocclusive disease is not a secondary event but a primary feature of VODI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of VODI in the families reported by <a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>VODI has an estimated frequency of 1:2,500 live births in the Lebanese population of Sydney, Australia, with 19 cases identified over a period of 30 years (<a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>VODI is associated with an 85% mortality if unrecognized and untreated with intravenous immunoglobulin and Pneumocystis jerovici prophylaxis (<a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 4 families with VODI, <a href="#2" class="mim-tip-reference" title="Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F. <strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong> Nature Genet. 38: 620-622, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>] [<a href="https://doi.org/10.1038/ng1780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16648851">Roscioli et al. (2006)</a> identified a homozygous single-base deletion, 642delC (<a href="/entry/604457#0001">604457.0001</a>), in the SP110 gene. In an affected member of another family with VODI, they identified a homozygous single-base deletion, 40delC (<a href="/entry/604457#0002">604457.0002</a>), in the SP110 gene on a different haplotype background from that in the other 4 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Mellis1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mellis, C., Bale, P. M.
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<strong>Familial hepatic veno-occlusive disease with probable immune deficiency.</strong>
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J. Pediat. 88: 236-242, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1249685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1249685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1249685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)80988-2" target="_blank">Full Text</a>]
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<a id="Roscioli2006" class="mim-anchor"></a>
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Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F.
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<strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong>
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Nature Genet. 38: 620-622, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1780" target="_blank">Full Text</a>]
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<a id="Selzer1951" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Selzer, G., Parker, R. G. F.
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<strong>Senecio poisoning exhibiting as Chiari's syndrome: a report on twelve cases.</strong>
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Am. J. Path. 27: 885-907, 1951.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14868767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14868767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14868767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Contributors:
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Victor A. McKusick - updated : 5/23/2006
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Creation Date:
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Victor A. McKusick : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 11/26/2014
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<span class="mim-text-font">
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alopez : 6/1/2006<br>alopez : 5/24/2006<br>terry : 5/23/2006<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/3/1986
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<strong>#</strong> 235550
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HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI
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<strong>ORPHA:</strong> 79124;
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<strong>DO:</strong> 0112254;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q37.1
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<span class="mim-font">
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Hepatic venoocclusive disease with immunodeficiency
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<span class="mim-font">
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235550
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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SP110
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<span class="mim-font">
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604457
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that hepatic venoocclusive disease with immunodeficiency (VODI) is caused by homozygous mutation in the SP110 gene (604457) on chromosome 2q37.</p>
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<strong>Description</strong>
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<p>Hepatic venoocclusive disease with immunodeficiency syndrome (VODI) is an autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells (summary by Roscioli et al., 2006). </p>
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<strong>Clinical Features</strong>
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<p>In Australia, Mellis and Bale (1976) described 5 infants in 3 families who died between ages 2 and 7 months with venoocclusive disease of the liver. In 2 of the families the parents were cousins. No exogenous explanation such as pyrrolizidine alkaloid, which is known to cause hepatic venoocclusive disease and at times affects multiple family members (Selzer and Parker, 1951), could be identified. All 5 infants had evidence suggesting immunodeficiency, such as hypogammaglobulinemia, multiple infections and lymphoid tissue deficient in germinal centers and mature plasma cells. Microcephaly, multiple small cerebral softenings, and left atrial endocardial fibrosis were also found at autopsy. </p><p>Roscioli et al. (2006) identified 6 children from 5 families of Lebanese ethnicity who presented between 3 and 7 months of age with either a combined T and B cell immunodeficiency and/or a personal or family history of hepatic venoocclusive disease. Clinical correlates of immunodeficiency included Pneumocystis jerovici infection, enteroviral infection, or mucocutaneous candidiasis, but there was no evidence of mycobacterial infection. Hepatic venoocclusive disease was verified by biopsy in at least 1 individual in each sibship and was indistinguishable clinically and pathologically from the sinusoidal obstruction syndrome described after hematopoietic stem cell transplantation. Absent lymph node germinal centers and absent tissue plasma cells were other features. The lack of recognized association of immunodeficiency with hepatic venoocclusive disease in other classes of immunodeficiency suggested that the hepatic venoocclusive disease is not a secondary event but a primary feature of VODI. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of VODI in the families reported by Roscioli et al. (2006) was consistent with autosomal recessive inheritance. </p>
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<strong>Population Genetics</strong>
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<p>VODI has an estimated frequency of 1:2,500 live births in the Lebanese population of Sydney, Australia, with 19 cases identified over a period of 30 years (Roscioli et al., 2006). </p>
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<strong>Clinical Management</strong>
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<p>VODI is associated with an 85% mortality if unrecognized and untreated with intravenous immunoglobulin and Pneumocystis jerovici prophylaxis (Roscioli et al., 2006). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 4 families with VODI, Roscioli et al. (2006) identified a homozygous single-base deletion, 642delC (604457.0001), in the SP110 gene. In an affected member of another family with VODI, they identified a homozygous single-base deletion, 40delC (604457.0002), in the SP110 gene on a different haplotype background from that in the other 4 families. </p>
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<strong>REFERENCES</strong>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Mellis, C., Bale, P. M.
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<strong>Familial hepatic veno-occlusive disease with probable immune deficiency.</strong>
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J. Pediat. 88: 236-242, 1976.
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[PubMed: 1249685]
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[Full Text: https://doi.org/10.1016/s0022-3476(76)80988-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Roscioli, T., Cliffe, S. T., Bloch, D. B., Bell, C. G., Mullan, G., Taylor, P. J., Sarris, M., Wang, J., Donald, J. A., Kirk, E. P., Ziegler, J. B., Salzer, U., McDonald, G. B., Wong, M., Lindemann, R., Buckley, M. F.
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<strong>Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.</strong>
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Nature Genet. 38: 620-622, 2006.
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[PubMed: 16648851]
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[Full Text: https://doi.org/10.1038/ng1780]
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<li>
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<p class="mim-text-font">
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Selzer, G., Parker, R. G. F.
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<strong>Senecio poisoning exhibiting as Chiari's syndrome: a report on twelve cases.</strong>
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Am. J. Path. 27: 885-907, 1951.
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[PubMed: 14868767]
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 5/23/2006
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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